| Primary Identifier | MGI:1333753 | Organism | mouse, laboratory |
| Chromosome | 9 | NCBI Gene Number | 18571 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables identical protein binding activity and protein dimerization activity. Involved in several processes, including actomyosin contractile ring assembly; bicellular tight junction assembly; and maintenance of epithelial cell apical/basal polarity. Located in actomyosin; cytosol; and extracellular exosome. Is expressed in several structures, including branchial arch; facial prominence; gut; limb bud; and neural fold. Human ortholog(s) of this gene implicated in primary autosomal recessive microcephaly. Orthologous to human PDCD6IP (programmed cell death 6 interacting protein). PHENOTYPE: Mice homozygous for a knock-out allele show decreased body and brain size and exhibit structural defects in the epithelium of the choroid plexus and in the brain ependyma that culminate in excessive cell extrusion, enlargement of the lateral ventricles, and hydrocephalus. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
